Full data view for gene GAA

Information The variants shown are described using the NM_000152.3 transcript reference sequence.

47 entries on 1 page. Showing entries 1 - 47.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Enzyme activity     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 18 c.2560C>T r.(?) p.(Arg854*) - Unknown - VUS g.78092070C>T g.80118271C>T - - GAA_000025 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. 18 c.2560C>T r.(?) p.(Arg854*) - Unknown - VUS g.78092070C>T g.80118271C>T - - GAA_000025 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 18 c.2560C>T r.(?) p.(Arg854*) - Unknown - pathogenic (recessive) g.78092070C>T g.80118271C>T - - GAA_000025 - PubMed: Castro-Gago 1999 - - Germline - - - - - DNA SEQ - - GSD2 ? PubMed: Castro-Gago 1999 - - - - - - - - - 1 Arnold Reuser
+/. 18 c.2560C>T r.(?) p.(Arg854*) - Unknown - pathogenic (recessive) g.78092070C>T g.80118271C>T - - GAA_000025 - PubMed: Laforet 2000 - - Germline - - - - - DNA SEQ - - GSD2 ? PubMed: Laforet 2000 - - - - - - - - - 1 Arnold Reuser
+/. 18 c.2560C>T r.(?) p.(Arg854*) - Unknown - pathogenic (recessive) g.78092070C>T g.80118271C>T - - GAA_000025 - PubMed: Hermans 1993 - - Germline - - - - - DNA SEQ - - GSD2 ? PubMed: Hermans 1993 - - - - - - - - - 1 Arnold Reuser
+/. 18 c.2560C>T r.(?) p.(Arg854*) - Unknown - pathogenic (recessive) g.78092070C>T g.80118271C>T - - GAA_000025 - PubMed: Becker 1998 - - Germline - - - - - DNA SEQ - - GSD2 ? PubMed: Becker 1998 - - - - - - - - - 1 Arnold Reuser
+/. 18 c.2560C>T r.(?) p.(Arg854*) - Parent #2 - pathogenic (recessive) g.78092070C>T g.80118271C>T - - GAA_000025 - - - - Germline - - - - - DNA SEQ - - GSD2 1 - - M ? Costa Rica - - - - - 1 Arnold Reuser
+/. 18 c.2560C>T r.(?) p.(Arg854*) - Parent #2 - pathogenic (recessive) g.78092070C>T g.80118271C>T - - GAA_000025 - - - - Germline - - - - - DNA SEQ - - GSD2 2 - - F ? Costa Rica - - - - - 1 Arnold Reuser
+/. 18 c.2560C>T r.(?) p.(Arg854*) - Parent #2 - pathogenic (recessive) g.78092070C>T g.80118271C>T - - GAA_000025 - - - - Germline - - - - - DNA SEQ - - GSD2 3 - - M ? Costa Rica - - - - - 1 Arnold Reuser
+/. 18 c.2560C>T r.(?) p.(Arg854*) - Unknown - pathogenic (recessive) g.78092070C>T g.80118271C>T - - GAA_000025 - - - - Germline - - - - - DNA SEQ - - GSD2 4 - - F ? Costa Rica - - - - - 1 Arnold Reuser
+/. 18 c.2560C>T r.(?) p.(Arg854*) no protein on western blot Unknown ACMG pathogenic g.78092070C>T g.80118271C>T - - GAA_000025 predicted very severe, classic infantile phenotype when combined with null allele; predicted CRIM- (no endogenous protein on Western blot) Pompe disease database 1046 - rs121907943 SUMMARY record - MAF <0.01 - - - - - - - - - - - - - - - - - - - - -
+/. - c.2560C>T r.(?) p.(Arg854Ter) - Unknown - pathogenic g.78092070C>T g.80118271C>T GAA(NM_000152.3):c.2560C>T (p.R854*), GAA(NM_000152.5):c.2560C>T (p.(Arg854Ter)) - GAA_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2560C>T r.(?) p.(Arg854Ter) - Unknown - pathogenic g.78092070C>T g.80118271C>T GAA(NM_000152.3):c.2560C>T (p.R854*), GAA(NM_000152.5):c.2560C>T (p.(Arg854Ter)) - GAA_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.2560C>T r.(?) p.(Arg854*) - Parent #1 - pathogenic g.78092070C>T g.80118271C>T - - GAA_000025 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 18 c.2560C>T r.(?) p.(Arg854*) - Parent #1 - pathogenic g.78092070C>T g.80118271C>T - - GAA_000025 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 18 c.2560C>T r.(?) p.(Arg854*) - Parent #1 - pathogenic g.78092070C>T g.80118271C>T - - GAA_000025 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 18 c.2560C>T r.(?) p.(Arg854*) - Parent #1 - pathogenic (recessive) g.78092070C>T g.80118271C>T - - GAA_000025 no 2nd variant reported PubMed: Becker 1998 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Becker 1998 family, 3 affected (?/F/M) F;M - - Africa (1)/African American (2) - - shared by Pompe Center Rotterdam - 3 Pim Pijnappel
+/. 18 c.2560C>T r.(?) p.(Arg854*) - Parent #1 - pathogenic (recessive) g.78092070C>T g.80118271C>T - - GAA_000025 no 2nd variant reported PubMed: Nino 2013 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Nino 2013 family, 2 affected males M - Colombia - - - shared by Pompe Center Rotterdam - 2 Pim Pijnappel
+/. 18 c.2560C>T r.(?) p.(Arg854*) - Both (homozygous) - pathogenic (recessive) g.78092070C>T g.80118271C>T - - GAA_000025 - PubMed: Becker 1998 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Becker 1998 - - - - Africa (2)/African American (3) - - shared by Pompe Center Rotterdam - 5 Pim Pijnappel
+/. 18 c.2560C>T r.(?) p.(Arg854*) - Both (homozygous) - pathogenic (recessive) g.78092070C>T g.80118271C>T - - GAA_000025 - PubMed: Messinger 2012 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Messinger 2012 - M - - African American - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 18 c.2560C>T r.(?) p.(Arg854*) - Both (homozygous) - pathogenic (recessive) g.78092070C>T g.80118271C>T - - GAA_000025 - PubMed: Elder 2013 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Elder 2013 - F - - African American - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 18 c.2560C>T r.(?) p.(Arg854*) - Both (homozygous) - pathogenic (recessive) g.78092070C>T g.80118271C>T - - GAA_000025 - PubMed: Alansari 2013 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Alansari 2013 - F - - Arab - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 18 c.2560C>T r.(?) p.(Arg854*) - Both (homozygous) - pathogenic (recessive) g.78092070C>T g.80118271C>T - - GAA_000025 - PubMed: Pereira 2008 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Pereira 2008 - F - Brazil - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 18 c.2560C>T r.(?) p.(Arg854*) - Both (homozygous) - pathogenic (recessive) g.78092070C>T g.80118271C>T - - GAA_000025 - PubMed: Oba-Shinjo 2009 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Oba-Shinjo 2009 family, 3 affected (F/M/F) F;M - Brazil - - - shared by Pompe Center Rotterdam - 3 Pim Pijnappel
+/. 18 c.2560C>T r.(?) p.(Arg854*) - Both (homozygous) - pathogenic (recessive) g.78092070C>T g.80118271C>T - - GAA_000025 - PubMed: McCready 2007 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: McCready 2007 - - - Pakistan - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 18 c.2560C>T r.(?) p.(Arg854*) - Parent #1 - pathogenic (recessive) g.78092070C>T g.80118271C>T - - GAA_000025 - PubMed: Becker 1998 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Becker 1998 - - - - Africa - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 18 c.2560C>T r.(?) p.(Arg854*) - Parent #2 - pathogenic (recessive) g.78092070C>T g.80118271C>T - - GAA_000025 - PubMed: Nino 2013 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Nino 2013 - M - Colombia - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 18 c.2560C>T r.(?) p.(Arg854*) - Parent #2 - pathogenic (recessive) g.78092070C>T g.80118271C>T - - GAA_000025 - PubMed: Oba-Shinjo 2009 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Oba-Shinjo 2009 family, 2 affected (F/M) F;M - Brazil - - - shared by Pompe Center Rotterdam - 2 Pim Pijnappel
+/. 18 c.2560C>T r.(?) p.(Arg854*) - Parent #2 - pathogenic (recessive) g.78092070C>T g.80118271C>T - - GAA_000025 - PubMed: Laforet 2000 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Laforet 2000 - M - France - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 18 c.2560C>T r.(?) p.(Arg854*) - Parent #2 - pathogenic (recessive) g.78092070C>T g.80118271C>T - - GAA_000025 - PubMed: McCready 2007 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: McCready 2007 - - - - white - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 18 c.2560C>T r.(?) p.(Arg854*) - Parent #2 - pathogenic (recessive) g.78092070C>T g.80118271C>T - - GAA_000025 - PubMed: Adams 1997 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Adams 1997 - M - - African american/ white - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 18 c.2560C>T r.(?) p.(Arg854*) - Parent #2 - pathogenic (recessive) g.78092070C>T g.80118271C>T - - GAA_000025 - PubMed: Kishnani 2006 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Kishnani 2006 - M - - white 2y10m - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 18 c.2560C>T r.(?) p.(Arg854*) - Parent #2 - pathogenic (recessive) g.78092070C>T g.80118271C>T - - GAA_000025 - PubMed: Bali 2012 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Bali 2012 - - - - - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 18 c.2560C>T r.(?) p.(Arg854*) - Parent #2 - pathogenic (recessive) g.78092070C>T g.80118271C>T - - GAA_000025 - PubMed: Palermo 2012 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Palermo 2012 - M - - - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 18 c.2560C>T r.(?) p.(Arg854*) - Parent #2 - pathogenic (recessive) g.78092070C>T g.80118271C>T - - GAA_000025 - PubMed: Bali 2011 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Bali 2011 - - - United States - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 18 c.2560C>T r.(?) p.(Arg854*) - Parent #2 - pathogenic (recessive) g.78092070C>T g.80118271C>T - - GAA_000025 - PubMed: Oba-Shinjo 2009 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Oba-Shinjo 2009 - M - Brazil - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 18 c.2560C>T r.(?) p.(Arg854*) - Parent #2 - pathogenic (recessive) g.78092070C>T g.80118271C>T - - GAA_000025 - PubMed: Hermans 1993 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Hermans 1993 - F - - African american - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 18 c.2560C>T r.(?) p.(Arg854*) - Parent #2 - pathogenic (recessive) g.78092070C>T g.80118271C>T - - GAA_000025 - PubMed: Nino 2013 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Nino 2013 - M - Colombia - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 18 c.2560C>T r.(?) p.(Arg854*) - Parent #2 - pathogenic (recessive) g.78092070C>T g.80118271C>T - - GAA_000025 - PubMed: Oba-Shinjo 2009 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Oba-Shinjo 2009 - M - Brazil - - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 18 c.2560C>T r.(?) p.(Arg854*) - Parent #2 - pathogenic (recessive) g.78092070C>T g.80118271C>T - - GAA_000025 - PubMed: Oba-Shinjo 2009 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Oba-Shinjo 2009 family, 2 affected females F - Brazil - - - shared by Pompe Center Rotterdam - 2 Pim Pijnappel
+/. 18 c.2560C>T r.(?) p.(Arg854*) - Parent #2 - pathogenic (recessive) g.78092070C>T g.80118271C>T - - GAA_000025 - PubMed: Banugaria 2013 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Banugaria 2013 - F - - African American - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. 18 c.2560C>T r.(?) p.(Arg854*) - Parent #2 - pathogenic (recessive) g.78092070C>T g.80118271C>T - - GAA_000025 - PubMed: Castro-Gago 1999 - - Germline - - - - - DNA SEQ - - GSD2 - PubMed: Castro-Gago 1999 - M - Dominican Republic white - - shared by Pompe Center Rotterdam - 1 Pim Pijnappel
+/. - c.2560C>T r.(?) p.(Arg854Ter) - Unknown - pathogenic g.78092070C>T g.80118271C>T GAA(NM_000152.3):c.2560C>T (p.R854*), GAA(NM_000152.5):c.2560C>T (p.(Arg854Ter)) - GAA_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 18 c.2560C>T r.(?) p.(Arg854Ter) - Parent #2 ACMG pathogenic g.78092070C>T g.80118271C>T - - GAA_000025 ACMG PVS1, PM2, PM3 PubMed: Cerino 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MYOP P34/Myo096 PubMed: Cerino 2022 analysis 82 myopathy patients - - Chile - - - - - 1 Johan den Dunnen
+/. - c.2560C>T r.(?) p.(Arg854Ter) - Unknown - pathogenic (recessive) g.78092070C>T g.80118271C>T - - GAA_000025 combination alleles not determined PubMed: Reiner 2022 - - Germline - 1/73755 controls - - - DNA SEQ, SEQ-NG - custom gene panel Healthy/Control - PubMed: Reiner 2022 carrier screening 73,755 controls - - United States - - - - - 1 Johan den Dunnen
+/. - c.2560C>T r.(?) p.(Arg854Ter) - Parent #2 - pathogenic (recessive) g.78092070C>T g.80118271C>T - - GAA_000025 - PubMed: Marti 2025 - - Germline - - - - - DNA SEQ, SEQ-NG - WES hCK Pat23 PubMed: Marti 2025 patient, no family history - - Spain - - - - - 1 Johan den Dunnen
+/. - c.2560C>T r.(?) p.(Arg854Ter) - Unknown - pathogenic g.78092070C>T - GAA(NM_000152.3):c.2560C>T (p.R854*), GAA(NM_000152.5):c.2560C>T (p.(Arg854Ter)) - GAA_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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